Varaico: Literature-Extracted Genetic Variants

MMP21

81 papers

RefSeq Summary

This gene encodes a member of the matrix metalloproteinase family. Proteins in this family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryo...

Pfam Domains

PG_binding_1aa 48–112UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 170–327UCSCMatrixin

Hemopexinaa 352–391UCSCHemopexin

Hemopexinaa 400–449UCSCHemopexin

Hemopexinaa 451–496UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 21

HGNC Previous Name

matrix metalloproteinase 21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_147191.1

p.H283Y

c.847C>T

Surrounding Variants

1 paper

NM_147191.1

p.V282I

c.844G>A

4 papers

NM_147191.1

p.I285T

c.854T>C

1 paper

NM_147191.1

p.L291_Y295del5

c.871_884del15

1 paper

NM_147191.1

p.T297M

c.890C>T

2 papers

NM_147191.1

p.M301I

c.903G>T

2 papers

NM_147191.1

p.M301I

c.903G>C

2 papers

NM_147191.1

p.M301I

c.903G>A

1 paper

NM_147191.1

p.Q302*

c.904C>T

1 paper

NM_147191.1

p.L314L

c.942G>A

3 papers

NM_147191.1

p.W316*

c.947G>A

3 papers

NM_147191.1

p.W316*

c.948G>A

5 papers

NM_147191.1

p.A321P

c.961G>C